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Study of a protein S gene polymorphism at DNA and mRNA level in a family with symptomatic protein S deficiency
Author(s) -
Marchetti G.,
Legnani C.,
Patracchini P.,
Gemmati D.,
Ferrati M.,
Palareti G.,
Coccheri S.,
Bernardi F.
Publication year - 1993
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1993.tb08662.x
Subject(s) - restriction fragment length polymorphism , gene , biology , messenger rna , microbiology and biotechnology , genetics , allele , polymorphism (computer science) , protein c , polymerase chain reaction , biochemistry
Summary. A protein S gene polymorphism, detectable by restriction analysis of amplified exonic sequences, was investigated in a family with members affected by protein S deficiency, deep vein thrombosis and ictus. The clinical laboratory findings as well as RFLP analysis were consistent with the presence of a type WP III protein S deficiency clearly marked by a polymorphic allele, thus enabling us to determine the carrier status in several subjects. The RFLP analysis, extended to platelet mRNA after reverse transcription and amplification, demonstrated that the mRNA produced by the putative defective gene was present in a subject affected by thrombosis.